[Juvenile xanthogranuloma in an infant in combination with familial hyperlipoproteinemia (author's transl)].
The authors describe a case in which a type IV and type II/b hyperlipoproteinemia (HLP) occurred in combination within one family. The father had Fredrickson IV type HLP, the mother type Fredrickson II/b HLP, and the child (an 11 months old male infant) Fredrickson IV type HLP. The infant with HLP IV showed signs of juvenile xanthogranuloma without lipoid storage. The combination of types IV and II/b within one family is a rarity, and it is interesting that the Fredrickson type IV HLP was associated with juvenile xanthogranuloma without lipoid storage. The literature so far contains no data on the joint occurrence of the two latter conditions.
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications*; D007223:Infant; D008297:Male; D010375:Pedigree; D014972:Xanthogranuloma, Juvenile / Q000150:complications* / Q000235:genetics / Q000473:pathology
Vorkommen von Xanthogranuloma juvenile bei einem Säugling in Verbindung mit familiärer Hyperlipoproteinämie.